[MIM 147 060]

(Autosomal dominant hyperimmunoglobulinemia E, hyperimmunoglobulinemia E syndrome type 1,  Buckley syndrome, AD - HIES, autosomal dominant HIES, AR - HIES)

Rare: 1 to 9/100,000. In general sporadic or autosomal dominant transmission of mutations of the STAT3 gene on 17q21. Autosomal recessive forms (AR-HIES) are rarer and are characterized by sensitivity to viral infections.

It is a primary immunodeficiency syndrome due to a proliferation of eosinophils and hyperproduction of IgE (> 2000 IU/ml). The STAT-3 gene plays an essential role in the signal transduction of cytokines, including the regulation of Th17 mediated by IL-6 cells. These cells play a key role in bacterial and fungal infections.

Children suffering of the dominant form present, from birth, a sensitivity to bacterial infections (especially Staphylococcus aureus or epidermidis):

-        skin: severe secondary eczema, abscesses, cellulitis, mucocutaneous candidosis

-        lung: pneumonia, empyema, bronchiectasis, pneumatocele, bronchopleural fistulas

-        ORL: chronic otitis media, sinusitis

-        sometimes visceral problems.

A characteristic sign is the presence of cold abscesses, without any local inflammatory reaction.

There is also a dysmorphic facies: facial asymmetry, prominent forehead, broad nasal bridge with a wide fleshy tip deep-set eyes, mild prognatism. Osteopenia causes a high risk of pathological fractures (long bones, ribs). Scoliosis in 2/3 of cases.

Teeth: deciduous teeth do not fall or do so very late, which leads to the appearance of two rows of teeth in the mouth.

Treatment: chronic  antibiotherapy, gammaglobulin infusion.

Anesthetic implications:

Chest Xray (pneumatocele?), lung function (if age is appropriate for those tests), strict asepsis and antibioprophylaxis. Perimedullary blocks: to be avoided in case of infectious lesions near the point of puncture; technical difficulties in case of scoliosis.

References : 

• Tapper JB, Giesecke AH.
  Spinal anaesthesia in a child with Job's syndrome, pneumatocoeles and empyema.
  Anaesthesia 1990; 45: 378-80.
• Green MS, Horrow JC.
  Ventilatory management of the patient with hyperimmunoglobulinemia E (Job) syndrome.
  J Clin Anesth 2008; 20: 133-5.

• Bosenberg AT.
  Anaesthesia and Job syndrome.
  SAJAA 2008 ; 14(3) : 11-4.

Updated: March 2019